A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619714



Internal ID15471609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41927491..42002888hg38UCSC Ensembl
Outerchr17:40083744..40154906hg19UCSC Ensembl
Outerchr17:37337270..37408432hg18UCSC Ensembl
Outerchr17:37337270..37408432hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg386447
hg196447
hg186447
hg176447
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509658
Supporting Variants
SamplesNA10860
Known GenesCNP, DNAJC7, TTC25
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv619714
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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